Detalhe da pesquisa
1.
Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology.
J Allergy Clin Immunol
; 145(1): 46-69, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31568798
2.
Noninfectious complications of common variable immune deficiency.
Allergy Asthma Proc
; 40(2): 129-132, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30819283
3.
MALDI-TOF-MS Assay to Detect the Hemizygous 22q11.2 Deletion in DNA from Dried Blood Spots.
Clin Chem
; 62(1): 287-92, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26585925
4.
Practice parameter for the diagnosis and management of primary immunodeficiency.
J Allergy Clin Immunol
; 136(5): 1186-205.e1-78, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26371839
5.
The effect of hypocalcemia in early childhood on autism-related social and communication skills in patients with 22q11 deletion syndrome.
Eur Arch Psychiatry Clin Neurosci
; 265(6): 519-24, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25267002
6.
Identification of non-severe combined immune deficiency T-cell lymphopenia at newborn screening for severe combined immune deficiency.
Ann Allergy Asthma Immunol
; 123(5): 424-427, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31419489
7.
Practical approach to genetic testing for primary immunodeficiencies.
Ann Allergy Asthma Immunol
; 123(5): 433-439, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31472268
8.
Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease.
J Pediatr Gastroenterol Nutr
; 58(5): 561-8, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24792626
9.
Severe Congenital Neutropenia associated with SRP54 mutation in 22q11.2 Deletion Syndrome: Hematopoietic Stem Cell Transplantation Results in Correction of Neutropenia with Adequate Immune Reconstitution.
J Clin Immunol
; 38(5): 546-549, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29956078
10.
Newborn Screening in the Diagnosis of Primary Immunodeficiency.
Clin Rev Allergy Immunol
; 63(1): 9-21, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34292457
11.
HSCT using carrier donors for CD40L deficiency results in excellent immune function and higher CD40L expression in cTfh.
Blood Adv
; 6(12): 3751-3755, 2022 06 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35443026
12.
Treatment adherence among low-income, African American children with persistent asthma.
J Asthma
; 47(3): 317-22, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20394517
13.
Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes.
Lancet
; 370(9596): 1443-52, 2007 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-17950858
14.
Combined immune deficiencies in children.
J Infus Nurs
; 29(4): 206-13, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16858253
15.
Primary Immunodeficiency Disorders.
Immunol Allergy Clin North Am
; 39(1): xi-xii, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30466777
16.
Home-based family intervention for low-income children with asthma: a randomized controlled pilot study.
J Fam Psychol
; 26(2): 171-8, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22353006
17.
Primary immunodeficiencies presenting in adolescence.
Adolesc Med State Art Rev
; 20(1): 121-48, ix-x, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19492695
18.
Monoclonal IgA gammopathy due to maternal B cells in an infant with severe combined immunodeficiency (SCID) prior to hematopoietic stem cell transplantation.
J Pediatr Hematol Oncol
; 28(1): 53-6, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16394896
19.
Cutting edge: antibody production to pneumococcal polysaccharides requires CD1 molecules and CD8+ T cells.
J Immunol
; 174(4): 1787-90, 2005 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15699104
20.
Practice parameter for the diagnosis and management of primary immunodeficiency.
Ann Allergy Asthma Immunol
; 94(5 Suppl 1): S1-63, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15945566